目的:KBG综合征(KBGS)是一种罕见的由ANKRD11单倍体功能不全引起的神经发育综合征。儿童表型被广泛报道,但仅限于成人。因此,我们旨在描述KBGS的临床特征。
方法:我们通过国际合作收集了医生报告的成人分子确认KBGS的数据。此外,我们进行了系统的文献综述,以确定以前报告的数据范围.
结果:国际合作确定了来自31个不相关KBGS家庭的36名成年人。症状包括轻度/临界智力障碍(n=22);严重和/或精细运动困难(n=15);精神和行为合并症,包括攻击性,焦虑,减少注意力跨度,和自闭症特征(n=26);非语言(n=3),各种癫痫发作类型和治疗反应的癫痫发作(n=10);眼科合并症(n=20)。曾报道过成年期的认知消退。罕见的特征包括升主动脉扩张(n=2)和自身免疫性疾病(n=4)。教育,工作,和居住不同,职业和个人角色的多样性突出了所看到的能力范围。文献综述确定了文献中报道的154名成年人,我们总结了这两个数据集的特征。
结论:我们的研究揭示了长期的神经发育结果,癫痫发作,行为和精神特征,和教育,工作,和KBGS成人的生活安排。
OBJECTIVE: KBG syndrome (KBGS) is a rare neurodevelopmental syndrome caused by haploinsufficiency of
ANKRD11. The childhood phenotype is extensively reported but limited for adults. Thus, we aimed to delineate the clinical features of KBGS.
METHODS: We collected physician-reported data of adults with molecularly confirmed KBGS through an international collaboration. Moreover, we undertook a systematic literature review to determine the scope of previously reported data.
RESULTS: The international collaboration identified 36 adults from 31 unrelated families with KBGS. Symptoms included mild/borderline intellectual disability (n = 22); gross and/or fine motor difficulties (n = 15); psychiatric and behavioral comorbidities including aggression, anxiety, reduced attention span, and autistic features (n = 26); nonverbal (n = 3), seizures with various seizure types and treatment responses (n = 10); ophthalmological comorbidities (n = 20). Cognitive regression during adulthood was reported once. Infrequent features included dilatation of the ascending aorta (n = 2) and autoimmune conditions (n = 4). Education, work, and residence varied, and the diversity of professional and personal roles highlighted the range of abilities seen. The literature review identified 154 adults reported across the literature, and we have summarized the features across both data sets.
CONCLUSIONS: Our study sheds light on the long-term neurodevelopmental outcomes, seizures, behavioral and psychiatric features, and education, work, and living arrangements for adults with KBGS.